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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PPARGC1A ENSG00000109819 ENST00000264867 p.V363L c.1087G>C Missense_Mutation -
CYLC2 ENSG00000155833 ENST00000374798 p.E133D c.399A>T Missense_Mutation -
ZNF385B ENSG00000144331 ENST00000410066 p.S148C c.443C>G Missense_Mutation -
RTN3 ENSG00000133318 ENST00000377819 p.A836T c.2506G>A Missense_Mutation -
NR1H4 ENSG00000012504 ENST00000392986 p.Q39Q c.117G>A Silent -
NR1H4 ENSG00000012504 ENST00000392986 p.Q98H c.294G>T Missense_Mutation -
NR1H4 ENSG00000012504 ENST00000392986 p.V236fs c.706delG Frame_Shift_Del -
THOC3 ENSG00000051596 ENST00000265097 p.I126M c.378C>G Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.Q1002L c.3005A>T Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.R21L c.62G>T Missense_Mutation -